Gaucher Disorder, or G.D., is an inherited, recessive disease that is found on the glucocerebrosidase gene on the autosomal chromosome number 1. It affects the cells of certain organs. These organs include the liver, brain, spleen, bone marrow, lungs and kidneys. There are about 10,000 people in the world with G.D., making it the most common "lysosomal storage disease." It is caused from not having enough glucocerebrosidase, an enzyme whose quantity relies on heredity. This enzyme breaks down glucocerebroside, a fatty substance that is found in the lysosome. If it is not broken down, the cell swells and bloats, as you can see below:
A normal bone cell.
The bone cell of someone with G.D.
Symptoms
The symptoms of Gaucher Disorder occur when the glucocerebroside-immersed Gaucher cell cannot carry out its functions like a regular cell. These symptoms include the enlargement of the liver and spleen, and swelling of the stomach as a result, fatigue, fragile bones and pain thereof, easy bleeding and bruising, osteoporosis, and reduced platelet and red blood cell count.
An Ashkenazi Jewish girl with G.D.
Type 1 Gaucher Disorder
In addition to the other symptoms of Gaucher Disorder, Type 1 victims also have acute neurological symptoms and occurs in about 1 in 20,000 live births. The symptoms of this type are very minor. Type 1 Gaucher Disorder is the most common type of the disease and is called the adult form of G.D. See the "Ethnic Predilection" section below for information on the ethnic tendencies of Type 1 G.D.
Type 2 Gaucher Disorder
This is also called the acute neuropathic form of the disorder. Its most severe symptom is an abnormal brainstem. Around 1 in 100,000 live births have Type 2 G.D. These victims usually live only three years after birth. Type 2 G.D. does not have an ethnic tendency like Type 1.
Type 3 Gaucher Disorder
Type 3 G.D. affects its victims slowly and later in childhood than Type 2 G.D. does and is therefore known as the chronic neuropathic form of Gaucher Disorder. Its incidence is about 1 in 50,000 live births. The symptoms of this form of the disease in addition to those that are evident in all forms are lack of coordination, myoclonic seizures, and mental deterioration.
Ethnic Predilection
Incidence of G.D. have been found in all races around the world. The incidence of the disease in all people is around 1-2 in every 100,000 live births. However, in the Ashkenazi Jewish population, 1 in just 450 live births have Type 1 G.D. This is because of the Jewish belief of keeping one's blood line pure. They marry those who are closely related in their blood-line and therefore inherit similar traits from both parents. This is the most common hereditary disease among the Jewish people.
Treatment
Type 1 G.D. is the only rationally treatable form of the disease as Type 2 and 3 victims die either at birth or shortly thereafter. Before 1991, treatments only treated the individual symptoms. Such treatments included surgery on the bones and joints, pain medication, and possible removal of organs like the spleen. Though these methods are still used today, more scientific methods have been able to get to the bottom of the problem. These treatments, such as the imiglucerase for injection called Cerezyme, actually replace the enzyme glucocerebrosidase instead of just treating the symptoms. For support groups, one can go to <http://www.cerezyme.com/patient/treatment/cz_pt_treatment.asp> or <http://mdjunction.com/gaucher-disease>. Discussion Questions:
Which is the most most dangerous of the three Gaucher Disorders?
Which is the most common type of G.D. in all people?
What race has the highest predilection to inherit this disease?
Gaucher Disorder
Overview of the Disorder
Gaucher Disorder, or G.D., is an inherited, recessive disease that is found on the glucocerebrosidase gene on the autosomal chromosome number 1. It affects the cells of certain organs. These organs include the liver, brain, spleen, bone marrow, lungs and kidneys. There are about 10,000 people in the world with G.D., making it the most common "lysosomal storage disease." It is caused from not having enough glucocerebrosidase, an enzyme whose quantity relies on heredity. This enzyme breaks down glucocerebroside, a fatty substance that is found in the lysosome. If it is not broken down, the cell swells and bloats, as you can see below:
Symptoms
The symptoms of Gaucher Disorder occur when the glucocerebroside-immersed Gaucher cell cannot carry out its functions like a regular cell. These symptoms include the enlargement of the liver and spleen, and swelling of the stomach as a result, fatigue, fragile bones and pain thereof, easy bleeding and bruising, osteoporosis, and reduced platelet and red blood cell count.Type 1 Gaucher Disorder
In addition to the other symptoms of Gaucher Disorder, Type 1 victims also have acute neurological symptoms and occurs in about 1 in 20,000 live births. The symptoms of this type are very minor. Type 1 Gaucher Disorder is the most common type of the disease and is called the adult form of G.D. See the "Ethnic Predilection" section below for information on the ethnic tendencies of Type 1 G.D.Type 2 Gaucher Disorder
This is also called the acute neuropathic form of the disorder. Its most severe symptom is an abnormal brainstem. Around 1 in 100,000 live births have Type 2 G.D. These victims usually live only three years after birth. Type 2 G.D. does not have an ethnic tendency like Type 1.Type 3 Gaucher Disorder
Type 3 G.D. affects its victims slowly and later in childhood than Type 2 G.D. does and is therefore known as the chronic neuropathic form of Gaucher Disorder. Its incidence is about 1 in 50,000 live births. The symptoms of this form of the disease in addition to those that are evident in all forms are lack of coordination, myoclonic seizures, and mental deterioration.Ethnic Predilection
Incidence of G.D. have been found in all races around the world. The incidence of the disease in all people is around 1-2 in every 100,000 live births. However, in the Ashkenazi Jewish population, 1 in just 450 live births have Type 1 G.D. This is because of the Jewish belief of keeping one's blood line pure. They marry those who are closely related in their blood-line and therefore inherit similar traits from both parents. This is the most common hereditary disease among the Jewish people.Treatment
Type 1 G.D. is the only rationally treatable form of the disease as Type 2 and 3 victims die either at birth or shortly thereafter. Before 1991, treatments only treated the individual symptoms. Such treatments included surgery on the bones and joints, pain medication, and possible removal of organs like the spleen. Though these methods are still used today, more scientific methods have been able to get to the bottom of the problem. These treatments, such as the imiglucerase for injection called Cerezyme, actually replace the enzyme glucocerebrosidase instead of just treating the symptoms. For support groups, one can go to <http://www.cerezyme.com/patient/treatment/cz_pt_treatment.asp> or <http://mdjunction.com/gaucher-disease>.Discussion Questions:
Works Cited